|
1
|
(HPO:0001319)
|
Neonatal hypotonia |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
|
2
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
3
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
4
|
(HPO:0003552)
|
Muscle stiffness |
|
|
|
|
23 / 7739
|
|
5
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0005348)
|
Inspiratory stridor |
|
|
|
|
8 / 7739
|
|
7
|
(HPO:0010548)
|
Percussion myotonia |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0011809)
|
Paradoxical myotonia |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
10
|
(OMIM)
|
Inspiratory stridor in early life |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Poor feeding in early life |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Transient neonatal hypotonia (less common) |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Grip myotonia |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Muscle weakness after cooling or on warming affected muscle |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased muscle action potential after warming affected muscle |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Episodic weakness may or may not occur independent of myotonia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Usually no myopathic changes on biopsy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Potassium sensitivity has been reported |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
21
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
22
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
23
|
(HPO:0012899)
|
Handgrip myotonia |
|
|
|
|
2 / 7739
|